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Fusion gene ID: 4511 |
FusionGeneSummary for BTBD10_PTH |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: BTBD10_PTH | Fusion gene ID: 4511 | Hgene | Tgene | Gene symbol | BTBD10 | PTH | Gene ID | 84280 | 51651 |
| Gene name | BTB domain containing 10 | peptidyl-tRNA hydrolase 2 | |
| Synonyms | GMRP-1|GMRP1 | BIT1|CFAP37|CGI-147|IMNEPD|PTH|PTH 2|PTH2 | |
| Cytomap | 11p15.3 | 17q23.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | BTB/POZ domain-containing protein 10BTB (POZ) domain containing 10BTB (broad-complex tramtrack and bric-a-brac/pox virus and zinc finger) domain-containing protein 10K+ channel tetramerization proteinglucose metabolism-related protein 1 | peptidyl-tRNA hydrolase 2, mitochondrialbcl-2 inhibitor of transcription 1cilia and flagella associated protein 37 | |
| Modification date | 20180519 | 20180523 | |
| UniProtAcc | Q9BSF8 | P01270 | |
| Ensembl transtripts involved in fusion gene | ENST00000278174, ENST00000530907, ENST00000528120, ENST00000532261, | ENST00000282091, ENST00000529816, | |
| Fusion gene scores | * DoF score | 3 X 3 X 3=27 | 2 X 2 X 2=8 |
| # samples | 4 | 2 | |
| ** MAII score | log2(4/27*10)=0.567040592723894 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(2/8*10)=1.32192809488736 | |
| Context | PubMed: BTBD10 [Title/Abstract] AND PTH [Title/Abstract] AND fusion [Title/Abstract] | ||
| Functional or gene categories assigned by FusionGDB annotation | |||
| * DoF score (Degree of Frequency) = # partners X # break points X # cancer types ** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10) |
| Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Partner | Gene | GO ID | GO term | PubMed ID |
| Fusion gene information from three resources (ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018)) * All genome coordinats were lifted-over on hg19. * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
| Data type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| TCGA | RV | LUSC | TCGA-LA-A7SW-01A | BTBD10 | chr11 | 13484639 | - | PTH | chr11 | 13514407 | - |
| TCGA | LD | LUSC | TCGA-LA-A7SW-01A | BTBD10 | chr11 | 13484639 | - | PTH | chr11 | 13517720 | - |
| * LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
| Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure. * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
| ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| 5UTR-5UTR | ENST00000278174 | ENST00000282091 | BTBD10 | chr11 | 13484639 | - | PTH | chr11 | 13514407 | - |
| 5UTR-5UTR | ENST00000278174 | ENST00000529816 | BTBD10 | chr11 | 13484639 | - | PTH | chr11 | 13514407 | - |
| intron-5UTR | ENST00000530907 | ENST00000282091 | BTBD10 | chr11 | 13484639 | - | PTH | chr11 | 13514407 | - |
| intron-5UTR | ENST00000530907 | ENST00000529816 | BTBD10 | chr11 | 13484639 | - | PTH | chr11 | 13514407 | - |
| 5UTR-5UTR | ENST00000528120 | ENST00000282091 | BTBD10 | chr11 | 13484639 | - | PTH | chr11 | 13514407 | - |
| 5UTR-5UTR | ENST00000528120 | ENST00000529816 | BTBD10 | chr11 | 13484639 | - | PTH | chr11 | 13514407 | - |
| intron-5UTR | ENST00000532261 | ENST00000282091 | BTBD10 | chr11 | 13484639 | - | PTH | chr11 | 13514407 | - |
| intron-5UTR | ENST00000532261 | ENST00000529816 | BTBD10 | chr11 | 13484639 | - | PTH | chr11 | 13514407 | - |
| 5UTR-intron | ENST00000278174 | ENST00000282091 | BTBD10 | chr11 | 13484639 | - | PTH | chr11 | 13517720 | - |
| 5UTR-5UTR | ENST00000278174 | ENST00000529816 | BTBD10 | chr11 | 13484639 | - | PTH | chr11 | 13517720 | - |
| intron-intron | ENST00000530907 | ENST00000282091 | BTBD10 | chr11 | 13484639 | - | PTH | chr11 | 13517720 | - |
| intron-5UTR | ENST00000530907 | ENST00000529816 | BTBD10 | chr11 | 13484639 | - | PTH | chr11 | 13517720 | - |
| 5UTR-intron | ENST00000528120 | ENST00000282091 | BTBD10 | chr11 | 13484639 | - | PTH | chr11 | 13517720 | - |
| 5UTR-5UTR | ENST00000528120 | ENST00000529816 | BTBD10 | chr11 | 13484639 | - | PTH | chr11 | 13517720 | - |
| intron-intron | ENST00000532261 | ENST00000282091 | BTBD10 | chr11 | 13484639 | - | PTH | chr11 | 13517720 | - |
| intron-5UTR | ENST00000532261 | ENST00000529816 | BTBD10 | chr11 | 13484639 | - | PTH | chr11 | 13517720 | - |
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FusionProtFeatures for BTBD10_PTH |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| BTBD10 | PTH |
| Plays a major role as an activator of AKT family membersby inhibiting PPP2CA-mediated dephosphorylation, thereby keepingAKTs activated. Plays a role in preventing motor neuronal deathand accelerating the growth of pancreatic beta cells.{ECO:0000250|UniProtKB:Q80X66}. | PTH elevates calcium level by dissolving the salts inbone and preventing their renal excretion. Stimulates [1-14C]-2-deoxy-D-glucose (2DG) transport and glycogen synthesis inosteoblastic cells. {ECO:0000269|PubMed:21076856}. |
| Retention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at . * Minus value of BPloci means that the break pointn is located before the CDS. |
| - In-frame and retained protein feature among the 13 regional features. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
| - In-frame and not-retained protein feature among the 13 regional features. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
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FusionGeneSequence for BTBD10_PTH |
| For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. (nt: nucleotides, aa: amino acids) |
| * Fusion amino acid sequences. |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| * Fusion transcript sequences (Full-length transcript). |
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FusionGenePPI for BTBD10_PTH |
| Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in . |
| Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
| Hgene | Hgene's interactors | Tgene | Tgene's interactors |
| BTBD10 | DLG5, CDC37, MAPK3, PPP1CA, CUL3, PPP1CC, BUB3, COPS7A | PTH | BAG6, FEZ1, MEP1A, PTH1R, PTH2R, KIAA1244 |
| - Retained PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
| - Lost PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
| - Retained PPIs, but lost function due to frame-shift fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for BTBD10_PTH |
| Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.0 2018-04-02) |
| Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for BTBD10_PTH |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | PTH | C0020437 | Hypercalcemia | 6 | CTD_human |
| Tgene | PTH | C0029456 | Osteoporosis | 5 | CTD_human |
| Tgene | PTH | C0002871 | Anemia | 2 | CTD_human |
| Tgene | PTH | C0020503 | Hyperparathyroidism, Secondary | 2 | CTD_human |
| Tgene | PTH | C0020598 | Hypocalcemia | 2 | CTD_human;HPO |
| Tgene | PTH | C1832648 | Hypoparathyroidism familial isolated | 2 | CTD_human;ORPHANET;UNIPROT |
| Tgene | PTH | C0005942 | Bone Diseases, Endocrine | 1 | CTD_human |
| Tgene | PTH | C0005974 | Bone Resorption | 1 | CTD_human |
| Tgene | PTH | C0018801 | Heart failure | 1 | CTD_human |
| Tgene | PTH | C0020438 | Hypercalciuria | 1 | CTD_human |
| Tgene | PTH | C0020492 | Hyperostosis | 1 | CTD_human |
| Tgene | PTH | C0020538 | Hypertensive disease | 1 | CTD_human |
| Tgene | PTH | C0029458 | Osteoporosis, Postmenopausal | 1 | CTD_human |
| Tgene | PTH | C0035579 | Rickets | 1 | CTD_human |
| Tgene | PTH | C0041948 | Uremia | 1 | CTD_human |
| Tgene | PTH | C0085681 | Hyperphosphatemia (disorder) | 1 | CTD_human;HPO |
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